A breakthrough for a rare genetic disorder


Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder that has affected 0.8 million male children in India. DMD occurs due to deficiency in the manufacture of dystrophin — a protein located primarily in skeletal muscles — used during movement, besides in other organs such as lung, heart and in the brain’s nerve cells.

This affects their functioning. The symptoms include muscle degeneration and weakness, which goes on to affect various physiological activities of the patient including breathing and blood circulation.

The disease usually affects male children between the ages of three and 15. The patient is gradually forced to sit on a wheelchair due to limitations in movement. Usually, patients die by the age of 20. And treatment available is prohibitively expensive.

What is the treatment available for DMD at present?

The available therapy in the global market is called antisense oligonucleotide (AON), developed by the US and European pharmaceutical companies.

There are two types of antisense therapies: Eteplirsen (Exondys 51) and Drisapersen. However, only Eteplirsen has been approved by the US Food and Drug Administration (FDA) for the treatment of this disease.

This drug is made by an organic chemical which is known as ‘Morpholino Oligonucleotides or Morpholinos’. The drug ‘Exondys 51’ is manufactured and supplied by Sarepta Therapeutics, USA.

FDA, on the other hand, has rejected Drisapersen due to limitations in doses and adverse effects. While it is not effective in lower doses, in higher or effective doses, the drug is found to have toxic effects on the patient, and hence is unsafe for use. 

The other forms of treatments include physiotherapy and administration of glucocorticoid steroids to the patient. In these situations, there is no cure except keeping the disease under control and delaying its slow progression. 

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